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Q&A with Australian Health Practitioners
How is Marfan syndrome diagnosed?
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Michelle O'Sullivan
Occupational Therapist (OT)
I have extensive experience in the management of hypermobility disorders including Ehlers-Danlos Syndrome. I work exclusively with patients with hypermobility conditions. Having graduated from the … View Profile
The gene responsible for Marfan Syndrome has been identified which means that genetic testing is available for making a diagnosis. In addition, a physician will also usually take a family history (sometimes there is no one else in the family with the same gene mutation, which indicates a new, spontaneous mutation), use diagnostic imaging, physical examination and eye examination to give a accurate picture of the syndrome at that point in time.
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